Marie-Christine CHARTIER-HARLIN - Publications

Affiliations: 
INSERM, Lille, France 
Area:
Alzheimer, Parkinson

115 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2024 Naaldijk Y, Fernández B, Fasiczka R, Fdez E, Leghay C, Croitoru I, Kwok JB, Boulesnane Y, Vizeneux A, Mutez E, Calvez C, Destée A, Taymans JM, Aragon AV, Yarza AB, ... ... Chartier-Harlin MC, et al. A potential patient stratification biomarker for Parkinson´s disease based on LRRK2 kinase-mediated centrosomal alterations in peripheral blood-derived cells. Npj Parkinson's Disease. 10: 12. PMID 38191886 DOI: 10.1038/s41531-023-00624-8  0.797
2023 Iannotta L, Emanuele M, Favetta G, Tombesi G, Vandewynckel L, Lara Ordóñez AJ, Saliou JM, Drouyer M, Sibran W, Civiero L, Nichols RJ, Athanasopoulos PS, Kortholt A, Chartier-Harlin MC, Greggio E, et al. PAK6-mediated phosphorylation of PPP2R2C regulates LRRK2-PP2A complex formation. Frontiers in Molecular Neuroscience. 16: 1269387. PMID 38169846 DOI: 10.3389/fnmol.2023.1269387  0.655
2023 Filippini F, Nola S, Zahraoui A, Roger K, Esmaili M, Sun J, Wojnacki J, Vlieghe A, Bun P, Blanchon S, Rain JC, Taymans JM, Chartier-Harlin MC, Guerrera C, Galli T. Secretion of VGF relies on the interplay between LRRK2 and post-Golgi v-SNAREs. Cell Reports. 42: 112221. PMID 36905628 DOI: 10.1016/j.celrep.2023.112221  0.616
2023 Sugier PE, Lucotte EA, Domenighetti C, Law MH, Iles MM, Brown K, Amos C, McKay JD, Hung RJ, Karimi M, Bacq-Daian D, Boland-Augé A, Olaso R, Deleuze JF, Lesueur F, ... ... Chartier-Harlin MC, et al. Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 36788297 DOI: 10.1002/mds.29337  0.75
2023 Taymans JM, Mutez E, Sibran W, Vandewynckel L, Deldycke C, Bleuse S, Marchand A, Sarchione A, Leghay C, Kreisler A, Simonin C, Koprich J, Baille G, Defebvre L, Dujardin K, ... ... Chartier-Harlin MC, et al. Alterations in the LRRK2-Rab pathway in urinary extracellular vesicles as Parkinson's disease and pharmacodynamic biomarkers. Npj Parkinson's Disease. 9: 21. PMID 36750568 DOI: 10.1038/s41531-023-00445-9  0.794
2022 Grover S, Kumar Sreelatha AA, Pihlstrom L, Domenighetti C, Schulte C, Sugier PE, Radivojkov-Blagojevic M, Lichtner P, Mohamed O, Portugal B, Landoulsi Z, May P, Bobbili D, Edsall C, Bartusch F, ... ... Chartier-Harlin MC, et al. Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence From the COURAGE-PD Consortium. Neurology. 99: e698-e710. PMID 35970579 DOI: 10.1212/WNL.0000000000200699  0.745
2022 Domenighetti C, Douillard V, Sugier PE, Sreelatha AAK, Schulte C, Grover S, May P, Bobbili DR, Radivojkov-Blagojevic M, Lichtner P, Singleton AB, Hernandez DG, Edsall C, Gourraud PA, Mellick GD, ... ... Chartier-Harlin MC, et al. The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 35810454 DOI: 10.1002/mds.29133  0.728
2022 Coku I, Mutez E, Eddarkaoui S, Carrier S, Marchand A, Deldycke C, Goveas L, Baille G, Tir M, Magnez R, Thuru X, Vermeersch G, Vandenberghe W, Buée L, Defebvre L, ... ... Chartier-Harlin MC, et al. Functional Analyses of Two Novel LRRK2 Pathogenic Variants in Familial Parkinson's Disease. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 35708213 DOI: 10.1002/mds.29124  0.804
2022 Grover S, Ashwin AKS, Pihlstrom L, Domenighetti C, Schulte C, Sugier PE, Radivojkov-Blagojevic M, Lichtner P, Mohamed O, Portugal B, Landoulsi Z, May P, Bobbili D, Edsall C, Bartusch F, ... ... Chartier-Harlin MC, et al. Genome-wide Association and Meta-analysis of Age-at-Onset in Parkinson Disease: Evidence From COURAGE-PD Consortium. Neurology. PMID 35618440 DOI: 10.1212/WNL.0000000000200699  0.815
2022 Grover S, Ashwin AKS, Pihlstrom L, Domenighetti C, Schulte C, Sugier PE, Radivojkov-Blagojevic M, Lichtner P, Mohamed O, Portugal B, Landoulsi Z, May P, Bobbili D, Edsall C, Bartusch F, ... ... Chartier-Harlin MC, et al. Genome-wide Association and Meta-analysis of Age-at-Onset in Parkinson Disease: Evidence From COURAGE-PD Consortium. Neurology. PMID 35618440 DOI: 10.1212/WNL.0000000000200699  0.815
2022 Fernández B, Chittoor-Vinod VG, Kluss JH, Kelly K, Bryant N, Nguyen APT, Bukhari SA, Smith N, Lara Ordóñez AJ, Fdez E, Chartier-Harlin MC, Montine TJ, Wilson MA, Moore DJ, West AB, et al. Evaluation of Current Methods to Detect Cellular Leucine-Rich Repeat Kinase 2 (LRRK2) Kinase Activity. Journal of Parkinson's Disease. PMID 35599495 DOI: 10.3233/JPD-213128  0.532
2022 Marchand A, Sarchione A, Athanasopoulos PS, Roy HB, Goveas L, Magnez R, Drouyer M, Emanuele M, Ho FY, Liberelle M, Melnyk P, Lebègue N, Thuru X, Nichols RJ, Greggio E, ... ... Chartier-Harlin MC, et al. A Phosphosite Mutant Approach on LRRK2 Links Phosphorylation and Dephosphorylation to Protective and Deleterious Markers, Respectively. Cells. 11. PMID 35326469 DOI: 10.3390/cells11061018  0.661
2022 Domenighetti C, Sugier PE, Ashok Kumar Sreelatha A, Schulte C, Grover S, Mohamed O, Portugal B, May P, Bobbili DR, Radivojkov-Blagojevic M, Lichtner P, Singleton AB, Hernandez DG, Edsall C, Mellick GD, ... ... Chartier-Harlin MC, et al. Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 34997937 DOI: 10.1002/mds.28902  0.755
2021 Domenighetti C, Sugier PE, Sreelatha AAK, Schulte C, Grover S, Mohamed O, Portugal B, May P, Bobbili DR, Radivojkov-Blagojevic M, Lichtner P, Singleton AB, Hernandez DG, Edsall C, Mellick GD, ... ... Chartier-Harlin MC, et al. Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease. Journal of Parkinson's Disease. PMID 34633332 DOI: 10.3233/JPD-212851  0.722
2021 Sarchione A, Marchand A, Taymans JM, Chartier-Harlin MC. Alpha-Synuclein and Lipids: The Elephant in the Room? Cells. 10. PMID 34572099 DOI: 10.3390/cells10092452  0.616
2021 Cresto N, Gardier C, Gaillard MC, Gubinelli F, Roost P, Molina D, Josephine C, Dufour N, Auregan G, Guillermier M, Bernier S, Jan C, Gipchtein P, Hantraye P, Chartier-Harlin MC, et al. The C-Terminal Domain of LRRK2 with the G2019S Substitution Increases Mutant A53T α-Synuclein Toxicity in Dopaminergic Neurons In Vivo. International Journal of Molecular Sciences. 22. PMID 34201785 DOI: 10.3390/ijms22136760  0.618
2021 Drouyer M, Bolliger MF, Lobbestael E, Van den Haute C, Emanuele M, Lefebvre R, Sibran W, De Wit T, Leghay C, Mutez E, Dzamko N, Halliday GM, Murayama S, Martoriati A, Cailliau K, ... ... Chartier-Harlin MC, et al. Protein phosphatase 2A holoenzymes regulate leucine-rich repeat kinase 2 phosphorylation and accumulation. Neurobiology of Disease. 105426. PMID 34144124 DOI: 10.1016/j.nbd.2021.105426  0.799
2021 Goveas L, Mutez E, Chartier-Harlin MC, Taymans JM. Mind the Gap: LRRK2 Phenotypes in the Clinic vs. in Patient Cells. Cells. 10. PMID 33922322 DOI: 10.3390/cells10050981  0.78
2020 Belarbi K, Cuvelier E, Bonte MA, Desplanque M, Gressier B, Devos D, Chartier-Harlin MC. Glycosphingolipids and neuroinflammation in Parkinson's disease. Molecular Neurodegeneration. 15: 59. PMID 33069254 DOI: 10.1186/s13024-020-00408-1  0.324
2020 Rideout HJ, Chartier-Harlin MC, Fell MJ, Hirst WD, Huntwork-Rodriguez S, Leyns CEG, Mabrouk OS, Taymans JM. The Current State-of-the Art of LRRK2-Based Biomarker Assay Development in Parkinson's Disease. Frontiers in Neuroscience. 14: 865. PMID 33013290 DOI: 10.3389/Fnins.2020.00865  0.674
2020 Marchand A, Drouyer M, Sarchione A, Chartier-Harlin MC, Taymans JM. LRRK2 Phosphorylation, More Than an Epiphenomenon. Frontiers in Neuroscience. 14: 527. PMID 32612495 DOI: 10.3389/Fnins.2020.00527  0.708
2020 Keo A, Mahfouz A, Ingrassia AMT, Meneboo JP, Villenet C, Mutez E, Comptdaer T, Lelieveldt BPF, Figeac M, Chartier-Harlin MC, van de Berg WDJ, van Hilten JJ, Reinders MJT. Transcriptomic signatures of brain regional vulnerability to Parkinson's disease. Communications Biology. 3: 101. PMID 32139796 DOI: 10.1038/s42003-020-0804-9  0.704
2019 Fernández B, Lara Ordóñez AJ, Fdez E, Mutez E, Comptdaer T, Leghay C, Kreisler A, Simonin C, Vandewynckel L, Defebvre L, Destée A, Bleuse S, Taymans JM, Chartier-Harlin MC, Hilfiker S. Centrosomal cohesion deficits as cellular biomarker in lymphoblastoid cell lines from LRRK2 Parkinson's disease patients. The Biochemical Journal. PMID 31527116 DOI: 10.1042/Bcj20190315  0.797
2018 Cuvelier E, Méquinion M, Leghay C, Sibran W, Stievenard A, Sarchione A, Bonte MA, Vanbesien-Mailliot C, Viltart O, Saitoski K, Caron E, Labarthe A, Comptdaer T, Semaille P, Carrié H, ... ... Chartier-Harlin MC, et al. Overexpression of Wild-Type Human Alpha-Synuclein Causes Metabolism Abnormalities in Thy1-aSYN Transgenic Mice. Frontiers in Molecular Neuroscience. 11: 321. PMID 30333721 DOI: 10.3389/Fnmol.2018.00321  0.627
2018 Taymans JM, Chartier-Harlin MC. In silico and Wet Bench Interactomics Sheds Light on the Similitudes and Differences between Human ROCO Proteins. Proteomics. e1800103. PMID 29791783 DOI: 10.1002/Pmic.201800103  0.639
2018 Madero-Pérez J, Fdez E, Fernández B, Lara Ordóñez AJ, Blanca Ramírez M, Gómez-Suaga P, Waschbüsch D, Lobbestael E, Baekelandt V, Nairn AC, Ruiz-Martínez J, Aiastui A, López de Munain A, Lis P, Comptdaer T, ... ... Chartier-Harlin MC, et al. Parkinson disease-associated mutations in LRRK2 cause centrosomal defects via Rab8a phosphorylation. Molecular Neurodegeneration. 13: 3. PMID 29357897 DOI: 10.1186/S13024-018-0235-Y  0.776
2017 Civiero L, Cogo S, Kiekens A, Morganti C, Tessari I, Lobbestael E, Baekelandt V, Taymans JM, Chartier-Harlin MC, Franchin C, Arrigoni G, Lewis PA, Piccoli G, Bubacco L, Cookson MR, et al. PAK6 Phosphorylates 14-3-3γ to Regulate Steady State Phosphorylation of LRRK2. Frontiers in Molecular Neuroscience. 10: 417. PMID 29311810 DOI: 10.3389/Fnmol.2017.00417  0.741
2017 Belarbi K, Cuvelier E, Destée A, Gressier B, Chartier-Harlin MC. NADPH oxidases in Parkinson's disease: a systematic review. Molecular Neurodegeneration. 12: 84. PMID 29132391 DOI: 10.1186/S13024-017-0225-5  0.421
2017 Sejwal K, Chami M, Rémigy H, Vancraenenbroeck R, Sibran W, Sütterlin R, Baumgartner P, McLeod R, Chartier-Harlin MC, Baekelandt V, Stahlberg H, Taymans JM. Cryo-EM analysis of homodimeric full-length LRRK2 and LRRK1 protein complexes. Scientific Reports. 7: 8667. PMID 28819229 DOI: 10.1038/S41598-017-09126-Z  0.697
2017 Ramírez MB, Ordóñez AJL, Fdez E, Madero-Pérez J, Gonnelli A, Drouyer M, Chartier-Harlin MC, Taymans JM, Bubacco L, Greggio E, Hilfiker S. GTP binding regulates cellular localization of Parkinson's disease-associated LRRK2. Human Molecular Genetics. 26: 2747-2767. PMID 28453723 DOI: 10.1093/Hmg/Ddx161  0.701
2017 Taymans JM, Mutez E, Drouyer M, Sibran W, Chartier-Harlin MC. LRRK2 detection in human biofluids: potential use as a Parkinson's disease biomarker? Biochemical Society Transactions. 45: 207-212. PMID 28202674 DOI: 10.1042/Bst20160334  0.816
2017 Moors TE, Hoozemans JJ, Ingrassia A, Beccari T, Parnetti L, Chartier-Harlin MC, van de Berg WD. Therapeutic potential of autophagy-enhancing agents in Parkinson's disease. Molecular Neurodegeneration. 12: 11. PMID 28122627 DOI: 10.1186/s13024-017-0154-3  0.313
2017 Stievenard A, Méquinion M, Andrews ZB, Destée A, Chartier-Harlin MC, Viltart O, Vanbesien-Mailliot CC. Is there a role for ghrelin in central dopaminergic systems? Focus on nigrostriatal and mesocorticolimbic pathways. Neuroscience and Biobehavioral Reviews. 73: 255-275. PMID 27914942 DOI: 10.1016/J.Neubiorev.2016.11.021  0.303
2017 Wit TD, Lobbestael E, Böllliger M, Drouyer M, Chartier-Harlin M, Nichols RJ, Taymans J, Baekelandt V. Phosphatome-wide siRNA screen reveals phosphorylation regulators of the Parkinson’s disease protein LRRK2. Frontiers in Neuroscience. 11. DOI: 10.3389/Conf.Fnins.2017.94.00094  0.658
2016 Nkiliza A, Mutez E, Simonin C, Leprêtre F, Duflot A, Figeac M, Villenet C, Semaille P, Comptdaer T, Genet A, Sablonnière B, Devos D, Defebvre L, Destée A, Chartier-Harlin MC. RNA-binding disturbances as a continuum from spinocerebellar ataxia type 2 to Parkinson disease. Neurobiology of Disease. 96: 312-322. PMID 27663142 DOI: 10.1016/J.Nbd.2016.09.014  0.721
2015 Taymans JM, Nkiliza A, Chartier-Harlin MC. Deregulation of protein translation control, a potential game-changing hypothesis for Parkinson's disease pathogenesis Trends in Molecular Medicine. 21: 466-472. PMID 26091824 DOI: 10.1016/J.Molmed.2015.05.004  0.711
2014 Chung SJ, Biernacka JM, Armasu SM, Anderson K, Frigerio R, Aasly JO, Annesi G, Bentivoglio AR, Brighina L, Chartier-Harlin MC, Goldwurm S, Hadjigeorgiou G, Jasinska-Myga B, Jeon BS, Kim YJ, et al. Alpha-synuclein repeat variants and survival in Parkinson's disease. Movement Disorders : Official Journal of the Movement Disorder Society. 29: 1053-7. PMID 24578302 DOI: 10.1002/Mds.25841  0.461
2014 Mutez E, Nkiliza A, Belarbi K, de Broucker A, Vanbesien-Mailliot C, Bleuse S, Duflot A, Comptdaer T, Semaille P, Blervaque R, Hot D, Leprêtre F, Figeac M, Destée A, Chartier-Harlin MC. Involvement of the immune system, endocytosis and EIF2 signaling in both genetically determined and sporadic forms of Parkinson's disease. Neurobiology of Disease. 63: 165-70. PMID 24269915 DOI: 10.1016/J.Nbd.2013.11.007  0.742
2014 Heckman MG, Elbaz A, Soto-Ortolaza AI, Serie DJ, Aasly JO, Annesi G, Auburger G, Bacon JA, Boczarska-Jedynak M, Bozi M, Brighina L, Chartier-Harlin MC, Dardiotis E, Destée A, Ferrarese C, et al. Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants. Neurobiology of Aging. 35: 266.e5-14. PMID 23962496 DOI: 10.1016/J.Neurobiolaging.2013.07.013  0.732
2013 Heckman MG, Soto-Ortolaza AI, Aasly JO, Abahuni N, Annesi G, Bacon JA, Bardien S, Bozi M, Brice A, Brighina L, Carr J, Chartier-Harlin MC, Dardiotis E, Dickson DW, Diehl NN, et al. Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium. Movement Disorders : Official Journal of the Movement Disorder Society. 28: 1740-4. PMID 23913756 DOI: 10.1002/Mds.25600  0.77
2012 Mutez E, Duflot A, Figeac M, Hot D, Blervaque R, Vanbesien-Mailliot C, Semaille P, Simonin C, Kreisler A, Destée A, Chartier-Harlin M-. 3.262 Deregulation Of Gene Expression In Peripheral Blood Mononuclear Cells At Different Stages Of The Parkinson'S Disease Parkinsonism & Related Disorders. 18. DOI: 10.1016/S1353-8020(11)70932-4  0.686
2012 Vanbesien-Mailliot C, Mutez E, Kreisler A, Simonin C, Duflot A, Semaille P, Peckeu S, Destée A, Chartier-Harlin M-. 3.112 Transcriptome Profiling Of Blood Mononuclear Cells From Rats Exposed To Cumulative Low Doses Of The Parkinson'S Disease-Linked Pesticide Rotenone Parkinsonism & Related Disorders. 18. DOI: 10.1016/S1353-8020(11)70830-6  0.666
2012 Simonin C, Mutez E, Sablonnière B, Duflot A, Figeac M, Lepretre F, Defebvre L, Kreisler A, Vanbesien-Mailliot C, Devos D, Frigard B, Destée A, Chartier-Harlin M-. 3.074 Transcriptome Profiling Of Blood Mononuclear Cells From Sca2 Patients According To Cerebellar Or Parkinsonian Phenotypes Parkinsonism & Related Disorders. 18. DOI: 10.1016/S1353-8020(11)70810-0  0.615
2012 Destée A, Mutez E, Rhun EL, Leprêtre F, Semaille P, Duflot A, Vanbesien-Maillot C, Kreisler A, Simonin C, Comptdaer T, Broucker Ad, Dachsel J, Farrer M-, Chartier-Harlin M-. Mutations du gène EIF4G 1 (Eukaryotic translation initiation factor 4-gamma) et maladie de Parkinson Revue Neurologique. 168. DOI: 10.1016/S0035-3787(12)70026-7  0.651
2011 Chartier-Harlin MC, Dachsel JC, Vilariño-Güell C, Lincoln SJ, Leprêtre F, Hulihan MM, Kachergus J, Milnerwood AJ, Tapia L, Song MS, Le Rhun E, Mutez E, Larvor L, Duflot A, Vanbesien-Mailliot C, et al. Translation initiator EIF4G1 mutations in familial Parkinson disease. American Journal of Human Genetics. 89: 398-406. PMID 21907011 DOI: 10.1016/J.Ajhg.2011.08.009  0.719
2011 Ross OA, Soto-Ortolaza AI, Heckman MG, Aasly JO, Abahuni N, Annesi G, Bacon JA, Bardien S, Bozi M, Brice A, Brighina L, Van Broeckhoven C, Carr J, Chartier-Harlin MC, Dardiotis E, et al. Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. The Lancet. Neurology. 10: 898-908. PMID 21885347 DOI: 10.1016/S1474-4422(11)70175-2  0.778
2011 Sharma M, Maraganore DM, Ioannidis JP, Riess O, Aasly JO, Annesi G, Abahuni N, Bentivoglio AR, Brice A, Van Broeckhoven C, Chartier-Harlin MC, Destée A, Djarmati A, Elbaz A, Farrer M, et al. Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease. Neurobiology of Aging. 32: 2108.e1-5. PMID 21782285 DOI: 10.1016/J.Neurobiolaging.2011.05.024  0.696
2011 Mutez E, Leprêtre F, Le Rhun E, Larvor L, Duflot A, Mouroux V, Kerckaert JP, Figeac M, Dujardin K, Destée A, Chartier-Harlin MC. SNCA locus duplication carriers: from genetics to Parkinson disease phenotypes. Human Mutation. 32: E2079-90. PMID 21412942 DOI: 10.1002/Humu.21459  0.727
2011 Elbaz A, Ross OA, Ioannidis JP, Soto-Ortolaza AI, Moisan F, Aasly J, Annesi G, Bozi M, Brighina L, Chartier-Harlin MC, Destée A, Ferrarese C, Ferraris A, Gibson JM, Gispert S, et al. Independent and joint effects of the MAPT and SNCA genes in Parkinson disease. Annals of Neurology. 69: 778-92. PMID 21391235 DOI: 10.1002/Ana.22321  0.776
2011 Mutez E, Larvor L, Leprêtre F, Mouroux V, Hamalek D, Kerckaert JP, Pérez-Tur J, Waucquier N, Vanbesien-Mailliot C, Duflot A, Devos D, Defebvre L, Kreisler A, Frigard B, Destée A, ... Chartier-Harlin MC, et al. Transcriptional profile of Parkinson blood mononuclear cells with LRRK2 mutation. Neurobiology of Aging. 32: 1839-48. PMID 20096956 DOI: 10.1016/J.Neurobiolaging.2009.10.016  0.742
2009 Vilariño-Güell C, Wider C, Soto-Ortolaza AI, Cobb SA, Kachergus JM, Keeling BH, Dachsel JC, Hulihan MM, Dickson DW, Wszolek ZK, Uitti RJ, Graff-Radford NR, Boeve BF, Josephs KA, Miller B, ... ... Chartier-Harlin MC, et al. Characterization of DCTN1 genetic variability in neurodegeneration. Neurology. 72: 2024-8. PMID 19506225 DOI: 10.1212/Wnl.0B013E3181A92C4C  0.569
2009 Chartier-Harlin M, Dachsel J, Hulihan M, Kachergus J, Lepretre F, Le Rhun E, Mutez E, Lincoln S, Ross O, Vilariño-Güell C, Yanagiya A, Sonenberg N, Lockhart P, Wszolek Z, Aasly J, et al. P2.206 EIF4G1 mutations in familial parkinsonism Parkinsonism & Related Disorders. 15: S145-S146. DOI: 10.1016/S1353-8020(09)70557-7  0.72
2008 Ross OA, Braithwaite AT, Skipper LM, Kachergus J, Hulihan MM, Middleton FA, Nishioka K, Fuchs J, Gasser T, Maraganore DM, Adler CH, Larvor L, Chartier-Harlin MC, Nilsson C, Langston JW, et al. Genomic investigation of alpha-synuclein multiplication and parkinsonism. Annals of Neurology. 63: 743-50. PMID 18571778 DOI: 10.1002/ana.21380  0.5
2007 Vanbesien-Mailliot C, Mutez E, Mouroux V, Destee A, Chartier-Harlin M-. 2.402 Low-dose pesticide exposure and early stages of Parkinsonism in a rat model Parkinsonism & Related Disorders. 13. DOI: 10.1016/S1353-8020(08)70722-3  0.61
2007 Mutez E, Mouroux V, Lepetre F, Larvor L, Vanbesien-Mailliot C, Kerckaert JP, Defebvre L, Destee A, Chartier-Harlin M-. 2.105 Transcriptome profiling in peripheral blood cells of LRRK2 G2019S mutation patients Parkinsonism & Related Disorders. 13. DOI: 10.1016/S1353-8020(08)70597-2  0.634
2006 Maraganore DM, de Andrade M, Elbaz A, Farrer MJ, Ioannidis JP, Krüger R, Rocca WA, Schneider NK, Lesnick TG, Lincoln SJ, Hulihan MM, Aasly JO, Ashizawa T, Chartier-Harlin MC, Checkoway H, et al. Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. Jama. 296: 661-70. PMID 16896109 DOI: 10.1001/Jama.296.6.661  0.679
2006 Richard F, Bruandet A, Sorel V, Dusart A, Chartier-Harlin M, Amouyel P, Lebert F, Pasquier F, Lambert J. P1-311: APOE locus and survival in a French cohort of demented cases Alzheimers & Dementia. 2. DOI: 10.1016/J.Jalz.2006.05.689  0.494
2005 Pritchard A, Harris J, Pritchard CW, St Clair D, Lemmon H, Lambert JC, Chartier-Harlin MC, Hayes A, Thaker U, Iwatsubo T, Mann DM, Lendon C. Association study and meta-analysis of low-density lipoprotein receptor related protein in Alzheimer's disease. Neuroscience Letters. 382: 221-6. PMID 15925094 DOI: 10.1016/J.Neulet.2005.03.016  0.595
2004 Chartier-Harlin MC, Kachergus J, Roumier C, Mouroux V, Douay X, Lincoln S, Levecque C, Larvor L, Andrieux J, Hulihan M, Waucquier N, Defebvre L, Amouyel P, Farrer M, Destée A. Alpha-synuclein locus duplication as a cause of familial Parkinson's disease. Lancet. 364: 1167-9. PMID 15451224 DOI: 10.1016/S0140-6736(04)17103-1  0.62
2004 Hayes A, Green EK, Pritchard A, Harris JM, Zhang Y, Lambert JC, Chartier-Harlin MC, Pickering-Brown SM, Lendon CL, Mann DM. A polymorphic variation in the interleukin 1A gene increases brain microglial cell activity in Alzheimer's disease. Journal of Neurology, Neurosurgery, and Psychiatry. 75: 1475-7. PMID 15377701 DOI: 10.1136/Jnnp.2003.030866  0.471
2004 Levecque C, Destée A, Mouroux V, Amouyel P, Chartier-Harlin MC. Assessment of Nurr1 nucleotide variations in familial Parkinson's disease. Neuroscience Letters. 366: 135-8. PMID 15276233 DOI: 10.1016/j.neulet.2004.05.028  0.427
2004 Zhang Y, Hayes A, Pritchard A, Thaker U, Haque MS, Lemmon H, Harris J, Cumming A, Lambert JC, Chartier-Harlin MC, St Clair D, Iwatsubo T, Mann DM, Lendon CL. Interleukin-6 promoter polymorphism: risk and pathology of Alzheimer's disease. Neuroscience Letters. 362: 99-102. PMID 15193763 DOI: 10.1016/J.Neulet.2004.03.008  0.57
2004 Maraganore DM, Lesnick TG, Elbaz A, Chartier-Harlin MC, Gasser T, Krüger R, Hattori N, Mellick GD, Quattrone A, Satoh J, Toda T, Wang J, Ioannidis JP, de Andrade M, Rocca WA, et al. UCHL1 is a Parkinson's disease susceptibility gene. Annals of Neurology. 55: 512-21. PMID 15048890 DOI: 10.1002/Ana.20017  0.39
2004 Elbaz A, Levecque C, Clavel J, Vidal JS, Richard F, Amouyel P, Alpérovitch A, Chartier-Harlin MC, Tzourio C. CYP2D6 polymorphism, pesticide exposure, and Parkinson's disease. Annals of Neurology. 55: 430-4. PMID 14991823 DOI: 10.1002/Ana.20051  0.391
2004 Levecque C, Elbaz A, Clavel J, Vidal JS, Amouyel P, Alpérovitch A, Tzourio C, Chartier-Harlin MC. Association of polymorphisms in the Tau and Saitohin genes with Parkinson's disease. Journal of Neurology, Neurosurgery, and Psychiatry. 75: 478-80. PMID 14966169 DOI: 10.1136/jnnp.2003.015750  0.366
2004 Lambert JC, Mann D, Harris J, Araria-Goumidi L, Chartier-Harlin MC, Cottel D, Iwatsubo T, Amouyel P, Lendon C. Association study of Notch 4 polymorphisms with Alzheimer's disease. Journal of Neurology, Neurosurgery, and Psychiatry. 75: 377-81. PMID 14966150  0.593
2004 Tian J, Shi J, Bailey K, Harris JM, Pritchard A, Lambert JC, Chartier-Harlin MC, Pickering-Brown SM, Lendon CL, Mann DM. A polymorphism in the angiotensin 1-converting enzyme gene is associated with damage to cerebral cortical white matter in Alzheimer's disease. Neuroscience Letters. 354: 103-6. PMID 14698449 DOI: 10.1016/J.Neulet.2003.09.072  0.539
2004 Lambert J, Mann D, Richard F, Tian J, Shi J, Thaker U, Merrot S, Harris J, Chartier-Harlin M, Sazdovitch V, Mohr M, Frigard B, Hauw J, Lendon C, Iwatsubo T, et al. P4-083 Is there a relation between APOE expression and amyloid depositions in the brain of Alzheimer's disease cases? Neurobiology of Aging. 25. DOI: 10.1016/S0197-4580(04)81641-5  0.577
2003 Lambert JC, Luedecking-Zimmer E, Merrot S, Hayes A, Thaker U, Desai P, Houzet A, Hermant X, Cottel D, Pritchard A, Iwatsubo T, Pasquier F, Frigard B, Conneally PM, Chartier-Harlin MC, et al. Association of 3'-UTR polymorphisms of the oxidised LDL receptor 1 (OLR1) gene with Alzheimer's disease. Journal of Medical Genetics. 40: 424-30. PMID 12807963 DOI: 10.1136/Jmg.40.6.424  0.599
2003 Elbaz A, Levecque C, Clavel J, Vidal JS, Richard F, Corrèze JR, Delemotte B, Amouyel P, Alpérovitch A, Chartier-Harlin MC, Tzourio C. S18Y polymorphism in the UCH-L1 gene and Parkinson's disease: evidence for an age-dependent relationship. Movement Disorders : Official Journal of the Movement Disorder Society. 18: 130-7. PMID 12539205 DOI: 10.1002/Mds.10326  0.423
2003 Levecque C, Elbaz A, Clavel J, Richard F, Vidal JS, Amouyel P, Tzourio C, Alpérovitch A, Chartier-Harlin MC. Association between Parkinson's disease and polymorphisms in the nNOS and iNOS genes in a community-based case-control study. Human Molecular Genetics. 12: 79-86. PMID 12490535 DOI: 10.1093/Hmg/Ddg009  0.45
2003 Araria-Goumidi L, Lambert JC, Cottel D, Amouyel P, Chartier-Harlin MC. No association of the HLA-A2 allele with Alzheimer's disease. Neuroscience Letters. 335: 75-8. PMID 12459502 DOI: 10.1016/S0304-3940(02)01057-1  0.524
2002 Araria-Goumidi L, Huguet JB, Lambert JC, Frigard B, Cottel D, Amouyel P, Chartier-Harlin MC. No association of the -48CT polymorphism of the presenilin 1 gene with Alzheimer disease in a late-onset sporadic population. Journal of Neural Transmission (Vienna, Austria : 1996). 109: 1023-7. PMID 12111439 DOI: 10.1007/s007020200085  0.554
2002 Lambert JC, Araria-Goumidi L, Myllykangas L, Ellis C, Wang JC, Bullido MJ, Harris JM, Artiga MJ, Hernandez D, Kwon JM, Frigard B, Petersen RC, Cumming AM, Pasquier F, Sastre I, ... ... Chartier-Harlin MC, et al. Contribution of APOE promoter polymorphisms to Alzheimer's disease risk. Neurology. 59: 59-66. PMID 12105308 DOI: 10.1212/Wnl.59.1.59  0.684
2002 Araria-Goumidi L, Lambert JC, Mann DM, Lendon C, Frigard B, Iwatsubo T, Cottel D, Amouyel P, Chartier-Harlin MC. Association study of three polymorphisms of TGF-beta1 gene with Alzheimer's disease. Journal of Neurology, Neurosurgery, and Psychiatry. 73: 62-4. PMID 12082048 DOI: 10.1136/Jnnp.73.1.62  0.588
2002 Green EK, Harris JM, Lemmon H, Lambert JC, Chartier-Harlin MC, St Clair D, Mann DM, Iwatsubo T, Lendon CL. Are interleukin-1 gene polymorphisms risk factors or disease modifiers in AD? Neurology. 58: 1566-8. PMID 12034804 DOI: 10.1212/Wnl.58.10.1566  0.484
2002 Levecque C, Destée A, Mouroux V, Becquet E, Defebvre L, Amouyel P, Chartier-Harlin MC. No genetic association of the ubiquitin carboxy-terminal hydrolase-L1 gene S18Y polymorphism with familial Parkinson's disease. Journal of Neural Transmission (Vienna, Austria : 1996). 108: 979-84. PMID 11716150 DOI: 10.1007/s007020170017  0.398
2001 Taylor A, Ezquerra M, Bagri G, Yip A, Goumidi L, Cottel D, Easton D, Evans JG, Xuereb J, Cairns NJ, Amouyel P, Chartier-Harlin MC, Brayne C, Rubinsztein DC. Alzheimer disease is not associated with polymorphisms in the angiotensinogen and renin genes. American Journal of Medical Genetics. 105: 761-4. PMID 11803527 DOI: 10.1002/Ajmg.10044  0.401
2001 Lambert JC, Mann D, Goumidi L, Harris J, Amouyel P, Iwatsubo T, Lendon C, Chartier-Harlin MC. Effect of the APOE promoter polymorphisms on cerebral amyloid peptide deposition in Alzheimer's disease. Lancet. 357: 608-9. PMID 11558492 DOI: 10.1016/S0140-6736(00)04063-0  0.568
2001 Lambert JC, Mann DM, Harris JM, Chartier-Harlin MC, Cumming A, Coates J, Lemmon H, StClair D, Iwatsubo T, Lendon C. The -48 C/T polymorphism in the presenilin 1 promoter is associated with an increased risk of developing Alzheimer's disease and an increased Abeta load in brain. Journal of Medical Genetics. 38: 353-5. PMID 11389157 DOI: 10.1136/Jmg.38.6.353  0.598
2001 Farrer M, Destée A, Levecque C, Singleton A, Engelender S, Becquet E, Mouroux V, Richard F, Defebvre L, Crook R, Hernandez D, Ross CA, Hardy J, Amouyel P, Chartier-Harlin MC. Genetic analysis of synphilin-1 in familial Parkinson's disease. Neurobiology of Disease. 8: 317-23. PMID 11300726 DOI: 10.1006/Nbdi.2000.0326  0.686
2000 Farrer M, Destée A, Becquet E, Vrièze FWD, Mouroux V, Richard F, Defebvre L, Lincoln S, Hardy J, Amouyel P, Chartier-Harlin MC. Linkage exclusion in French families with probable Parkinson's disease Movement Disorders. 15: 1075-1083. PMID 11104189 DOI: 10.1002/1531-8257(200011)15:6<1075::Aid-Mds1004>3.0.Co;2-2  0.641
2000 Lambert JC, Mann D, Goumidi L, Harris J, Pasquier F, Frigard B, Cottel D, Lendon C, Iwatsubo T, Amouyel P, Chartier-Harlin MC. A FE65 polymorphism associated with risk of developing sporadic late-onset alzheimer's disease but not with Abeta loading in brains. Neuroscience Letters. 293: 29-32. PMID 11065130 DOI: 10.1016/S0304-3940(00)01477-4  0.594
2000 Lambert JC, Goumidi L, Vrièze FW, Frigard B, Harris JM, Cummings A, Coates J, Pasquier F, Cottel D, Gaillac M, St Clair D, Mann DM, Hardy J, Lendon CL, Amouyel P, ... Chartier-Harlin MC, et al. The transcriptional factor LBP-1c/CP2/LSF gene on chromosome 12 is a genetic determinant of Alzheimer's disease. Human Molecular Genetics. 9: 2275-80. PMID 11001930 DOI: 10.1093/Oxfordjournals.Hmg.A018918  0.694
2000 Lambert J, Brousseau T, Defosse V, Evans A, Arveiler D, Ruidavets J, Haas B, Cambou J, Luc G, Ducimetière P, Cambien F, Chartier-Harlin M, Amouyel P. Independent association of an APOE gene promoter polymorphism with increased risk of myocardial infarction and decreased APOE plasma concentrations—the ECTIM Study Human Molecular Genetics. 9: 57-61. PMID 10587578 DOI: 10.1093/Hmg/9.1.57  0.569
2000 Schraen-Maschke S, Brique S, Chartier-Harlin MC, Brique E, Destée A, Sablonnière B. Analysis of ERDA1, CTG18.1, and uncloned CAG/CTG repeat sequences in familial Parkinson's disease with anticipation. American Journal of Medical Genetics. 88: 738-41. PMID 10581499 DOI: 10.1002/(SICI)1096-8628(19991215)88:6<738::AID-AJMG28>3.0.CO;2-M  0.352
2000 Lambert JC, Chartier-Harlin MC, Cottel D, Richard F, Neuman E, Guez D, Legrain S, Berr C, Amouyel P, Helbecque N. Is the LDL receptor-related protein involved in Alzheimer's disease? Neurogenetics. 2: 109-13. PMID 10369887 DOI: 10.1007/s100480050061  0.555
2000 Chartier-Harlin M, Lambert J, Amouyel P. APOE polymorphisms in Alzheimer's disease Neurobiology of Aging. 21: 137. DOI: 10.1016/S0197-4580(00)82417-3  0.619
1999 Lincoln S, Crook R, Chartier-Harlin MC, Gwinn-Hardy K, Baker M, Mouroux V, Richard F, Becquet E, Amouyel P, Destée A, Hardy J, Farrer M. No pathogenic mutations in the beta-synuclein gene in Parkinson's disease. Neuroscience Letters. 269: 107-9. PMID 10430516 DOI: 10.1016/S0304-3940(99)00420-6  0.695
1999 Wavrant-De Vrièze F, Crook R, Holmans P, Kehoe P, Owen MJ, Williams J, Roehl K, Laliiri DK, Shears S, Booth J, Wu W, Goate A, Chartier-Harlin MC, Hardy J, Pérez-Tur J. Genetic variability at the amyloid-beta precursor protein locus may contribute to the risk of late-onset Alzheimer's disease. Neuroscience Letters. 269: 67-70. PMID 10430506 DOI: 10.1016/S0304-3940(99)00417-6  0.691
1999 Sato N, Hori O, Yamaguchi A, Lambert JC, Chartier-Harlin MC, Robinson PA, Delacourte A, Schmidt AM, Furuyama T, Imaizumi K, Tohyama M, Takagi T. A novel presenilin-2 splice variant in human Alzheimer's disease brain tissue. Journal of Neurochemistry. 72: 2498-505. PMID 10349860 DOI: 10.1046/J.1471-4159.1999.0722498.X  0.538
1999 Rudrasingham V, Wavrant-De Vrièze F, Lambert JC, Chakraverty S, Kehoe P, Crook R, Amouyel P, Wu W, Rice F, Pérez-Tur J, Frigard B, Morris JC, Carty S, Petersen R, Cottel D, ... ... Chartier-Harlin MC, et al. Alpha-2 macroglobulin gene and Alzheimer disease. Nature Genetics. 22: 17-9; author reply 2. PMID 10319854 DOI: 10.1038/8726  0.732
1999 Brique S, Destée A, Lambert JC, Mouroux V, Delacourte A, Amouyel P, Chartier-Harlin MC. A new GTP-cyclohydrolase I mutation in an unusual dopa-responsive dystonia, familial form. Neuroreport. 10: 487-91. PMID 10208576 DOI: 10.1097/00001756-199902250-00008  0.582
1999 Wavrant-DeVrièze F, Rudrasingham V, Lambert JC, Chakraverty S, Kehoe P, Crook R, Amouyel P, Wu W, Holmans P, Rice F, Pérez-Tur J, Frigard B, Morris JC, Carty S, Cottel D, ... ... Chartier-Harlin MC, et al. No association between the alpha-2 macroglobulin I1000V polymorphism and Alzheimer's disease. Neuroscience Letters. 262: 137-9. PMID 10203250 DOI: 10.1016/S0304-3940(99)00035-X  0.752
1999 Lincoln S, Gwinn-Hardy K, Goudreau J, Chartier-Harlin MC, Baker M, Mouroux V, Richard F, Destée A, Becquet E, Amouyel P, Lynch T, Hardy J, Farrer M. No pathogenic mutations in the persyn gene in Parkinson's disease. Neuroscience Letters. 259: 65-6. PMID 10027558 DOI: 10.1016/S0304-3940(98)00901-X  0.668
1999 Kehoe P, Wavrant-De Vrieze F, Crook R, Wu WS, Holmans P, Fenton I, Spurlock G, Norton N, Williams H, Williams N, Lovestone S, Perez-Tur J, Hutton M, Chartier-Harlin MC, Shears S, et al. A full genome scan for late onset Alzheimer's disease. Human Molecular Genetics. 8: 237-45. PMID 9931331 DOI: 10.1093/Hmg/8.2.237  0.79
1998 Wu WS, Holmans P, Wavrant-DeVrièze F, Shears S, Kehoe P, Crook R, Booth J, Williams N, Pérez-Tur J, Roehl K, Fenton I, Chartier-Harlin MC, Lovestone S, Williams J, Hutton M, et al. Genetic studies on chromosome 12 in late-onset Alzheimer disease. Jama. 280: 619-22. PMID 9718053 DOI: 10.1001/Jama.280.7.619  0.731
1998 Lambert JC, Berr C, Pasquier F, Delacourte A, Frigard B, Cottel D, Pérez-Tur J, Mouroux V, Mohr M, Cécyre D, Galasko D, Lendon C, Poirier J, Hardy J, Mann D, ... ... Chartier-Harlin MC, et al. Pronounced impact of Th1/E47cs mutation compared with -491 AT mutation on neural APOE gene expression and risk of developing Alzheimer's disease. Human Molecular Genetics. 7: 1511-6. PMID 9700208 DOI: 10.1093/Hmg/7.9.1511  0.699
1998 Lambert J, Vrièze FW, Amouyel P, Chartier-Harlin M. Association at LRP gene locus with sporadic late-onset Alzheimer's disease The Lancet. 351: 1787-1788. PMID 9635959 DOI: 10.1016/S0140-6736(05)78749-3  0.642
1998 Lambert J, Pasquier F, Cottel D, Frigard B, Amouyel P, Chartier-Harlin M. A New Polymorphism in the Apoe Promoter Associated with Risk of Developing Alzheimer's Disease Human Molecular Genetics. 7: 533-540. PMID 9467014 DOI: 10.1093/Hmg/7.3.533  0.588
1997 Lambert JC, Pérez-Tur J, Dupire MJ, Galasko D, Mann D, Amouyel P, Hardy J, Delacourte A, Chartier-Harlin MC. Distortion of allelic expression of apolipoprotein E in Alzheimer's disease. Human Molecular Genetics. 6: 2151-4. PMID 9328480 DOI: 10.1093/Hmg/6.12.2151  0.691
1997 Wavrant-DeVrièze F, Pérez-Tur J, Lambert JC, Frigard B, Pasquier F, Delacourte A, Amouyel P, Hardy J, Chartier-Harlin MC. Association between the low density lipoprotein receptor-related protein (LRP) and Alzheimer's disease. Neuroscience Letters. 227: 68-70. PMID 9178861 DOI: 10.1016/S0304-3940(97)00304-2  0.702
1996 Lambert JC, Pérez-Tur J, Dupire MJ, Delacourte A, Frigard B, Chartier-Harlin MC. Analysis of the APOE alleles impact in Down's syndrome. Neuroscience Letters. 220: 57-60. PMID 8977148 DOI: 10.1016/S0304-3940(96)13244-4  0.589
1996 Buée L, Pérez-Tur J, Leveugle B, Buée-Scherrer V, Mufson EJ, Loerzel AJ, Chartier-Harlin MC, Perl DP, Delacourte A, Hof PR. Apolipoprotein E in Guamanian amyotrophic lateral sclerosis/parkinsonism-dementia complex: genotype analysis and relationships to neuropathological changes. Acta Neuropathologica. 91: 247-53. PMID 8834536 DOI: 10.1007/S004010050422  0.362
1995 Buée L, Permanne B, Pérez-Tur J, Chartier-Harlin MC, Delacourte A. Alzheimer's disease: A beta or ApoE amyloidosis? Lancet. 346: 59. PMID 7603172 DOI: 10.1016/S0140-6736(95)92694-1  0.375
1993 Kennedy AM, Newman S, McCaddon A, Ball J, Roques P, Mullan M, Hardy J, Chartier-Harlin MC, Frackowiak RS, Warrington EK. Familial Alzheimer's disease. A pedigree with a mis-sense mutation in the amyloid precursor protein gene (amyloid precursor protein 717 valine-->glycine). Brain : a Journal of Neurology. 116: 309-24. PMID 8461968 DOI: 10.1093/Brain/116.2.309  0.668
1993 Parfitt M, Crook R, Roques P, Rossor M, Chartier-Harlin M. The Cystatin-C gene is not linked to early onset familial Alzheimer's disease Neuroscience Letters. 154: 81-83. PMID 8361651 DOI: 10.1016/0304-3940(93)90176-L  0.433
1992 Crawford F, Chartier-Harlin MC, Mullan M, Hardy J, Delacourte A, Arnott G. Alzheimer's--a correction. Nature. 356: 390. PMID 1557118 DOI: 10.1038/356390B0  0.704
1992 Adroer R, Chartier-Harlin M, Crawford F, Oliva R. Improved direct sequencing of Alzheimer's amyloid precursor protein (APP) exons 16 and 17. Neuroscience Letters. 141: 69-71. PMID 1508403 DOI: 10.1016/0304-3940(92)90336-6  0.557
1992 Fidani L, Rooke K, Chartier-Harlin MC, Hughes D, Tanzi R, Mullan M, Roques P, Rossor M, Hardy J, Goate A. Screening for mutations in the open reading frame and promoter of the beta-amyloid precursor protein gene in familial Alzheimer's disease: identification of a further family with APP717 Val-->Ile. Human Molecular Genetics. 1: 165-8. PMID 1303172 DOI: 10.1093/Hmg/1.3.165  0.763
1992 Hughes D, Brown J, Hardy J, Chartier-Harlin MC. A polymorphic dinucleotide repeat in intron 2 of the human cystatin-C gene Human Molecular Genetics. 1: 143-143. PMID 1301159 DOI: 10.1093/Hmg/1.2.143  0.448
1991 Chartier-Harlin MC, Crawford F, Houlden H, Warren A, Hughes D, Fidani L, Goate A, Rossor M, Roques P, Hardy J. Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene. Nature. 353: 844-6. PMID 1944558 DOI: 10.1038/353844A0  0.801
1991 Chartier-Harlin MC, Crawford F, Hamandi K, Mullan M, Goate A, Hardy J, Backhovens H, Martin JJ, Broeckhoven CV. Screening for the beta-amyloid precursor protein mutation (APP717: Val----Ile) in extended pedigrees with early onset Alzheimer's disease. Neuroscience Letters. 129: 134-5. PMID 1922963 DOI: 10.1016/0304-3940(91)90738-F  0.768
1991 Crawford F, Hardy J, Mullan M, Goate A, Hughes D, Fidani L, Roques P, Rossor M, Chartier-Harlin MC. Sequencing of exons 16 and 17 of the beta-amyloid precursor protein gene in 14 families with early onset Alzheimer's disease fails to reveal mutations in the beta-amyloid sequence. Neuroscience Letters. 133: 1-2. PMID 1791986 DOI: 10.1016/0304-3940(91)90042-R  0.801
1991 Goate A, Chartier-Harlin MC, Mullan M, Brown J, Crawford F, Fidani L, Giuffra L, Haynes A, Irving N, James L. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature. 349: 704-6. PMID 1671712 DOI: 10.1038/349704A0  0.794
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